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classic maple syrup urine disease
Disease Summary
Associated Targets (5)
Tbio
4
Tchem
1
Mondo Description Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.
Mondo Term and Equivalent IDs
MONDO:0017051: classic maple syrup urine disease
Orphanet:268145:
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:268145
MONDO:0017051
High level summary of knowledge for a disease, including descriptions and datasource references.